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456 Pilot study of topical itraconazole for the treatment of basal cell carcinomas in gorlin syndrome patients
This study aimed to (1) determine whether 4-12 weeks of itraconazole 0.7% gel reduces GLI1 mRNA levels, the target of the hedgehog signaling pathway and a biomarker for basal cell carcinoma (BCC) and (2) assess whether itraconazole gel reduces BCC tumor area in Gorlin syndrome patients. This open label, intra-patient study enrolled 9 Gorlin syndrome patients with a total of 107 tumors. Seven patients were male; the majority (67%) was non-Hispanic white with mean age of 54 years. Each patient contributed at least 4 target BCCs: one tumor was collected at baseline for GLI1 mRNA, one or more were treated with placebo gel twic...
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: G.E. Kim, G. Kwon, I. Bailey-Healy, A. Mirza, R.J. Whitson, A.E. Oro, J. Tang Tags: Clinical Research: Pathophysiology and Therapeutics Source Type: research

Intratarsal keratinous eyelid cysts in Gorlin syndrome: A review and reappraisal
A 38-year-old woman presented with multiple bilateral recurrent eyelid cysts. Her medical history was notable for Gorlin (nevoid basal cell carcinoma) syndrome. Histopathologic and immunohistochemical examinations revealed that the lesions were intratarsal keratinous cysts. They were similar in appearance to sporadic intratarsal keratinous cysts and closely resembled odontogenic keratocysts of the jaw. Eyelid cysts occur in up to 40% of patients with Gorlin syndrome; however, their description has been cursory and, for the most part, outside of the ophthalmic literature.
Source: Survey of Ophthalmology - December 26, 2017 Category: Opthalmology Authors: Natalie Wolkow, Frederick A. Jakobiec, Michael K. Yoon Tags: Clinical pathologic reviews Source Type: research

Blue light versus red light for photodynamic therapy of basal cell carcinoma in patients with Gorlin syndrome: A bilaterally controlled comparison study
Basal cell nevus syndrome (BCNS; Gorlin; Gorlin-Goltz) is a chronic genetic condition characterized by basal cell carcinoma (BCC) skin tumors and odontogenic jaw cysts before the age of 20 years, palmar/plantar pitting, brain calcifications, various skeletal and soft tissue abnormalities, and a high risk for developing medulloblastoma 1 –4. Surgical treatment of multiple BCC tumors, starting in childhood and often numbering into the hundreds over a lifetime, causes extensive scarring that can be highly debilitating both functionally and psychologically 5.
Source: Photodiagnosis and Photodynamic Therapy - February 19, 2018 Category: Laser Surgery Authors: Edward V. Maytin, Urvashi Kaw, Muneeb Ilyas, Judith A. Mack, Bo Hu Source Type: research

Medulloblastoma in a toddler with Gorlin syndrome.
We report a male toddler with multicentric posterior fossa tumor and calcifications along the falx cerebri, suggesting MB and GS. Pathology revealed nodular MB. His testing confirmed a germline SUFU mutation. His tumor resolved with three induction cycles of chemotherapy, but he died of respiratory failure due to infection at 20 months of age. Overlooking calcifications along the falx cerebri in children with MB can induce significant morbidity. PMID: 29706825 [PubMed]
Source: Baylor University Medical Center Proceedings - April 1, 2018 Category: Universities & Medical Training Authors: Al-Rahawan MG, Trevino S, Jacob R, Murray JC, Al-Rahawan MM Tags: Proc (Bayl Univ Med Cent) Source Type: research

Dentofacial characteristics in a child with Meier –Gorlin syndrome: A rare case report
Publication date: Available online 16 May 2018 Source:The Saudi Dental Journal Author(s): Rahul G. Morankar, Ashima Goyal, Krishan Gauba, Aditi Kapur Meier–Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of microtia, absent or small patellae and short stature. The other associated clinical features may include developmental delay, congenital pulmonary emphysema, gastro-esophageal reflux, urogenital anomalies, such as cryptorchidism and feeding problems. The facial characteristics during childhood are typical, comprising of a small mouth with full lips and micrognathia/retrognathia...
Source: The Saudi Dental Journal - May 17, 2018 Category: Dentistry Source Type: research

Dentofacial characteristics in a child with Meier–Gorlin syndrome: A rare case report
Publication date: July 2018Source: The Saudi Dental Journal, Volume 30, Issue 3Author(s): Rahul G. Morankar, Ashima Goyal, Krishan Gauba, Aditi KapurAbstractMeier–Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of microtia, absent or small patellae and short stature. The other associated clinical features may include developmental delay, congenital pulmonary emphysema, gastro-esophageal reflux, urogenital anomalies, such as cryptorchidism and feeding problems. The facial characteristics during childhood are typical, comprising of a small mouth with full lips and micrognathia/retrog...
Source: The Saudi Dental Journal - July 5, 2018 Category: Dentistry Source Type: research

Overexpression of Desmoglein 2 in a mouse model of Gorlin syndrome enhances spontaneous basal cell carcinoma formation through STAT3-mediated Gli1 expression
Activation of the Hedgehog (Hh) pathway is causative of virtually all sporadic and Gorlin syndrome-related basal cell carcinomas (BCC), with loss of function of Patched1 (Ptc1) being the most common genomic lesion. Sporadic BCCs also overexpress desmoglein-2 (Dsg2), a desmosomal cadherin normally found in the basal layer. Using a mouse model of Gorlin syndrome (Ptc1+/lacZ mice), we found that overexpressing Dsg2 in the basal layer (K14-Dsg2/Ptc1+/lacZ) or the superficial epidermis (Inv-Dsg2/Ptc1+/lacZ mice) resulted in increased spontaneous BCC formation at 3 and 6 months, respectively.
Source: Journal of Investigative Dermatology - October 3, 2018 Category: Dermatology Authors: Donna M. Brennan-Crispi, Andrew M. Overmiller, Lukas Tamayo-Orrego, Molly R. Marous, Joya Sahu, Kathleen P. McGuinn, Felicia Cooper, Ioanna Ch. Georgiou, Maxwell Frankfurter, Julio C. Salas-Alanis, Fr édéric Charron, Sarah E. Millar, Mỹ G. Mahoney, Na Tags: Original Article Source Type: research

Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.
In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders. PMID: 30986546 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - April 11, 2019 Category: Genetics & Stem Cells Authors: Ting CY, Bhatia N, Lim JY, Jasmine Goh CY, Vasanwala RF, Choo-Phaik Ong C, Seow WT, Kok-Leng Yeow V, Ting TW, Swee-Lian Ng I, Jamuar SS Tags: Eur J Med Genet Source Type: research

681 Development of a topical Hedgehog inhibitor for prevention of new surgically eligible basal cell carcinomas in patients with Gorlin Syndrome: Phase 3 trial
Identification of PTCH1 gene mutations in the Gorlin syndrome two decades ago led to the development of small molecule Hedgehog (HH) inhibitors that replace the function of the mutant gene. These drugs have remarkable oral efficacy against advanced BCCs and off-label vs. the multiple BCCs in patients with Gorlin syndrome. Unfortunately, on target, extra-cutaneous adverse effects cause patients to stop these drugs, after which BCCs in complete clinical and histologic remission generally recur. Therefore, PellePharm is developing a small molecule HH inhibitor for topical use.
Source: Journal of Investigative Dermatology - April 19, 2019 Category: Dermatology Authors: K. Grycz, D. Hinds, P. Howland, G. Kochendoerfer, A. Alderman, V. Niranjan, S. Ravindran, E.H. Epstein Tags: Pharmacology and Drug Development Source Type: research

Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage - coincidental finding or new feature of known syndrome?
Abstract Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome. 7-year-old girl with proportional short stature, microcephaly, micrognathia, small ears and absent patellae had normal karyotype with 8% of spontaneous chromosomal breakage. Homozygous mutation p.Phe89Ser(c.266T>A) in ORC1 gene was found by whole genome sequencing. She is regularly followed up for possible neoplasm development. To out knowledge, this is the first report of the association between MGS and DNA breakage. PMID: 31274184 [PubMed - as supplied by publisher]
Source: Endokrynologia Polska - July 4, 2019 Category: Endocrinology Authors: Vojtková J, Čiljaková M, Jeseňák M, Bánovčin P Tags: Endokrynol Pol Source Type: research

Gorlin syndrome in a patient with skin type VI
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder that is characterized by multiple basal cell carcinomas developing at a young age, keratocystic odontogenic tumors of the jaw, palmar or plantar pits, calcification of the falx cerebri, and skeletal abnormalities. Nevoid basal cell carcinoma syndrome is caused by mutations in the PTCH1 or SUFU genes. Our patient with Fitzpatrick skin type VI was diagnosed with Gorlin syndrome based on the presentation of multiple major diagnostic characteristics. Although he is 33 years old, he has not developed any multiple basal cel...
Source: Dermatology Online Journal - December 10, 2019 Category: Dermatology Source Type: research

Gorlin-goltz syndrome with rare associated finds: a case report of 17-year follow-up
This study reports the case of a 27-year-old woman with GGS who was followed-up for 17 years.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 31, 2020 Category: ENT & OMF Authors: YASMIM RODRIGUES SENA, HUMBERTO J ÁCOME SANTOS, ANTONIA TAIANE LOPES DE MORAES, KAROLYNY MARTINS BALBINOT, SÉRGIO DE MELO ALVES JÚNIOR, NEWTON GUERREIRO DA SILVA JUNIOR, JOÃO DE JESUS VIANA PINHEIRO Tags: 20190452 Source Type: research

Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review.
Abstract Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as well as a modification of therapeutic management. Herein, we present a molecularly confirmed familial case of Gorlin syndrome with an early cardiac tumor as a presenting sign. We provide detailed clinical characteristics of the affected individuals and a useful review of syndromic causes of pediatric cardiac tumor...
Source: J Appl Genet - September 21, 2020 Category: Genetics & Stem Cells Authors: Szczałuba K, Makuła E, Piórecka-Makuła A, Sicińska J, Rydzanicz M, Gasperowicz P, Płoski R, Werner B Tags: J Appl Genet Source Type: research